Canonical Allele Identifier: CA2963253656

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425561_6425562insGTGTGGCTCTGC , CM000679.2:g.6425561_6425562insGTGTGGCTCTGC	GRCh38
NC_000017.10:g.6328881_6328882insGTGTGGCTCTGC , CM000679.1:g.6328881_6328882insGTGTGGCTCTGC	GRCh37
NC_000017.9:g.6269605_6269606insGTGTGGCTCTGC	NCBI36
NG_008474.1:g.14648_14649insACGCAGAGCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1063_1064insACGCAGAGCCAC MANE Select	ENSP00000370521.3:p.Pro354_Pro355insHisAlaGluPro
ENST00000250087.9:c.874_875insACGCAGAGCCAC	ENSP00000250087.5:p.Pro291_Pro292insHisAlaGluPro
ENST00000381128.2:c.*935_*936insACGCAGAGCCAC	ENSP00000370520.2:n.*935_*936insACGCAGAGCCAC
ENST00000381129.7:c.1063_1064insACGCAGAGCCAC	ENSP00000370521.3:p.Pro354_Pro355insHisAlaGluPro
ENST00000570466.5:c.997_998insACGCAGAGCCAC	ENSP00000461287.1:p.Pro332_Pro333insHisAlaGluPro
ENST00000570584.5:c.251+8367_251+8368insACGCAGAGCCAC
ENST00000574506.5:c.1027_1028insACGCAGAGCCAC	ENSP00000458456.1:p.Pro342_Pro343insHisAlaGluPro
ENST00000575265.5:c.*1034_*1035insACGCAGAGCCAC	ENSP00000459673.1:n.*1034_*1035insACGCAGAGCCAC
ENST00000576307.5:c.883_884insACGCAGAGCCAC	ENSP00000459522.1:p.Pro294_Pro295insHisAlaGluPro
ENST00000576776.5:c.991_992insACGCAGAGCCAC	ENSP00000460827.1:p.Pro330_Pro331insHisAlaGluPro
ENST00000621374.4:c.*81_*82insACGCAGAGCCAC	ENSP00000481337.1:n.*81_*82insACGCAGAGCCAC
NM_001033054.2:c.874_875insACGCAGAGCCAC	NP_001028226.1:p.Pro291_Pro292insHisAlaGluPro
NM_001033055.2:c.883_884insACGCAGAGCCAC	NP_001028227.1:p.Pro294_Pro295insHisAlaGluPro
NM_001285399.2:c.1027_1028insACGCAGAGCCAC	NP_001272328.1:p.Pro342_Pro343insHisAlaGluPro
NM_001285400.2:c.997_998insACGCAGAGCCAC	NP_001272329.1:p.Pro332_Pro333insHisAlaGluPro
NM_001285401.2:c.991_992insACGCAGAGCCAC	NP_001272330.1:p.Pro330_Pro331insHisAlaGluPro
NM_001285402.1:c.946_947insACGCAGAGCCAC	NP_001272331.1:p.Pro315_Pro316insHisAlaGluPro
NM_014336.4:c.1063_1064insACGCAGAGCCAC	NP_055151.3:p.Pro354_Pro355insHisAlaGluPro
NM_001033054.3:c.874_875insACGCAGAGCCAC	NP_001028226.1:p.Pro291_Pro292insHisAlaGluPro
NM_001033055.3:c.883_884insACGCAGAGCCAC	NP_001028227.1:p.Pro294_Pro295insHisAlaGluPro
NM_001285399.3:c.1027_1028insACGCAGAGCCAC	NP_001272328.1:p.Pro342_Pro343insHisAlaGluPro
NM_001285400.3:c.997_998insACGCAGAGCCAC	NP_001272329.1:p.Pro332_Pro333insHisAlaGluPro
NM_001285401.3:c.991_992insACGCAGAGCCAC	NP_001272330.1:p.Pro330_Pro331insHisAlaGluPro
NM_001285402.2:c.946_947insACGCAGAGCCAC	NP_001272331.1:p.Pro315_Pro316insHisAlaGluPro
NM_001285403.3:c.*1034_*1035insACGCAGAGCCAC	NP_001272332.1:n.*1034_*1035insACGCAGAGCCAC
NM_014336.5:c.1063_1064insACGCAGAGCCAC MANE Select	NP_055151.3:p.Pro354_Pro355insHisAlaGluPro
NM_001285403.4:c.*1034_*1035insACGCAGAGCCAC	NP_001272332.1:n.*1034_*1035insACGCAGAGCCAC